SERPINA1 and HSD17B13 Gene Variants in Patients with Liver Fibrosis and Cirrhosis
Background & Aims: Two single nucleotide polymorphisms (SNPs) in SERPINA1 (Pi*Z rs28929474 and Pi*S
rs17580) are risk factors for developing liver cirrhosis. A recent study identified a common SNP in HSD17B13
(rs72613567) that conferred protection from chronic liver disease. The aim of the present study was to test
these associations in a cohort of Lithuanian patients with liver fibrosis or cirrhosis.
Methods: The study included 302 patients with cirrhosis, 127 patients with liver fibrosis (METAVIR stages
I-III) and 548 controls, all from Lithuania. SNPs were genotyped by quantitative PCR, using TaqMan allelic
discrimination assays. Adjusted p value of ≤ 0.016 was considered significant.
Results: Genotype distributions of SERPINA1 and HSD17B13 SNPs were in Hardy-Weinberg equilibrium.
SERPINA1 Pi*Z was not associated with liver fibrosis or cirrhosis. HSD17B13 rs10433937 (in high linkage
disequilibrium with rs72613567; r 2 =0.96) also showed no overall association with liver disease, but the GG-
genotype was associated with reduced risk of liver fibrosis (aOR 0.37, p=0.03). SERPINA1 Pi*S was associated
with higher risk of developing hepatic fibrosis (aOR 3.42, p=0.001) and cirrhosis (aOR 2.59, p=0.02).
Conclusions: We found that SERPINA1 Pi*S variant conferred an increased risk of developing liver fibrosis,
while SERPINA1 Pi*Z and HSD17B13 rs10433937 were not associated with liver fibrosis or cirrhosis of